MCID: ART005
MIFTS: 65

Arteriovenous Malformation

Categories: Blood diseases, Cancer diseases, Cardiovascular diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Arteriovenous Malformation

MalaCards integrated aliases for Arteriovenous Malformation:

Name: Arteriovenous Malformation 12 74 53 29 6 15 37
Arteriovenous Malformations 54 42 15
Arteriovenous Hemangioma 12 71
Congenital Arteriovenous Malformation 71
Racemose Hemangioma 12
Racemose Aneurysm 12
Cirsoid Aneurysm 12
Racemose Angioma 12

Classifications:



External Ids:

Disease Ontology 12 DOID:11294
NCIt 49 C2882
SNOMED-CT 67 11071001 14156004
ICD10 32 I77.0
UMLS 71 C0003857 C0334533

Summaries for Arteriovenous Malformation

MedlinePlus : 42 Arteriovenous malformations (AVMs) are defects in your vascular system. Your vascular system is your body's network of blood vessels. It includes your Arteries, which carry oxygen-rich blood from your heart to your tissues and organs Veins, which carry the blood and waste products back to your heart Capillaries, which are tiny blood vessels that connect your small arteries to your small veins An AVM is a snarled tangle of arteries and veins. They are connected to each other, with no capillaries. That interferes with the blood circulation in an organ. AVMs can happen anywhere, but they are more common in the brain or spinal cord. Most people with brain or spinal cord AVMs have few, if any, major symptoms. Sometimes they can cause seizures or headaches. AVMs are rare. The cause of AVMs is unknown, but they seem to develop during pregnancy or soon after birth. Doctors use imaging tests to detect them. Medicines can help with the symptoms from AVMs. The greatest danger is hemorrhage. Treatment for AVMs can include surgery or focused radiation therapy. Because surgery can be risky, you and your doctor need to make a decision carefully. NIH: National Institute of Neurological Disorders and Stroke

MalaCards based summary : Arteriovenous Malformation, also known as arteriovenous malformations, is related to pulmonary arteriovenous malformation and arteriovenous malformations of the brain, and has symptoms including seizures, tremor and angina pectoris. An important gene associated with Arteriovenous Malformation is HRAS (HRas Proto-Oncogene, GTPase), and among its related pathways/superpathways are GPCR Pathway and PEDF Induced Signaling. The drugs Dexmedetomidine and Sufentanil have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and heart, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system.

NINDS : 53 Arteriovenous malformations (AVMs) are abnormal, snarled tangles of blood vessels that cause multiple irregular connections between the arteries and veins.  These malformations most often occur in the spinal cord and in any part of the brain or on its surface, but can develop elsewhere in the body. AVMs can damage the brain and spinal cord by reducing the amount of oxygen reaching neurological tissues, bleeding into surrounding tissue (hemorrhage) that can cause stroke or brain damage, and by compressing or displacing parts of the brain or spinal cord.  Many people with an AVM experience few, if any, significant symptoms, which can include headache, weakness, seizures, pain, and problems with speech, vision, or movement.  Most often AVMs are congenital, but they can appear sporadically.  In some cases the AVM may be inherited, but it is more likely that other inherited conditions increase the risk of having an AVM.  The malformations tend to be discovered only incidentally, usually during treatment for an unrelated disorder or at autopsy.

Wikipedia : 74 Arteriovenous malformation is an abnormal connection between arteries and veins, bypassing the capillary... more...

Related Diseases for Arteriovenous Malformation

Diseases in the Arteriovenous Malformation family:

Rare Arteriovenous Malformation

Diseases related to Arteriovenous Malformation via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 879)
# Related Disease Score Top Affiliating Genes
1 pulmonary arteriovenous malformation 35.0 ENG ACVRL1
2 arteriovenous malformations of the brain 33.4 VEGFA TEK RASA1 PDCD10 MMP9 KRAS
3 parkes weber syndrome 33.3 RASA1 EPHB4
4 hereditary hemorrhagic telangiectasia 32.4 VEGFA TGFBR1 EPHB4 ENG BMPR2 ANGPT2
5 cerebral cavernous malformations 32.3 TIE1 TEK PTEN PDCD10 ENG
6 weber syndrome 31.6 RASA1 EPHB4 ENG ACVRL1
7 telangiectasis 31.4 VEGFA TGFBR1 ENG BMPR2 ACVRL1
8 varicose veins 31.4 VEGFA MMP9 IL6 EPHB4
9 glial tumor 31.3 PTEN MMP9
10 brain edema 31.1 VEGFA MMP9 IL6
11 angiodysplasia 31.0 VEGFA ENG ANGPT2 ACVRL1
12 klippel-trenaunay-weber syndrome 31.0 TEK RASA1 PDCD10
13 pulmonary hypertension, primary, 1 30.9 ENG BMPR2 ACVRL1
14 congestive heart failure 30.9 VEGFA IL6 ANGPT2 ANGPT1
15 retinal vein occlusion 30.8 VEGFA IL6 ANGPT2
16 hepatopulmonary syndrome 30.8 VEGFA ENG BMPR2 ACVRL1
17 macular retinal edema 30.8 VEGFA IL6 ANGPT2
18 neurofibromatosis, type iv, of riccardi 30.7 RASA1 PTEN KRAS HRAS
19 meningioma, familial 30.7 VEGFA RASA1 PTEN PDCD10 MMP9
20 capillary hemangioma 30.5 VEGFA TEK RASA1 ANGPT2
21 pyogenic granuloma 30.5 TEK KRAS ANGPT2
22 retinal vascular disease 30.4 VEGFA TEK IL6 ANGPT2
23 gastric ulcer 30.3 VEGFA MMP9 IL6
24 nevus, epidermal 30.3 PTEN KRAS HRAS
25 keratitis, hereditary 30.3 VEGFA MMP9 IL6
26 chorioamnionitis 30.2 VEGFA MMP9 IL6
27 gingivitis 30.2 VEGFA MMP9 IL6
28 placenta accreta 30.1 TEK ANGPT2 ANGPT1
29 peripheral artery disease 30.1 VEGFA IL6 ENG ANGPT2
30 thyroid tumor 30.1 PTEN KRAS HRAS
31 basal cell carcinoma 30.1 VEGFA RASA1 PTEN MMP9 IL6
32 exanthem 30.0 VEGFA KRAS IL6 HRAS
33 intermittent claudication 30.0 VEGFA TEK IL6 ANGPT2
34 heart disease 30.0 VEGFA MMP9 IL6 HRAS ENG BMPR2
35 renal cell carcinoma, nonpapillary 30.0 VEGFA TEK PTEN MMP9 HRAS ENG
36 intussusception 30.0 VEGFA TEK IL6 ANGPT1
37 craniopharyngioma 29.8 VEGFA MMP9 IL6
38 twin-to-twin transfusion syndrome 29.8 ENG ANGPT2 ANGPT1
39 intramuscular hemangioma 29.8 TEK ANGPT1
40 adenocarcinoma 29.7 VEGFA PTEN MMP9 KRAS HRAS
41 intestinal benign neoplasm 29.7 VEGFA PTEN KRAS IL6 HRAS
42 vascular disease 29.6 VEGFA PDCD10 MMP9 IL6 ENG BMPR2
43 leukemia, chronic myeloid 29.6 VEGFA RASA1 PTEN KRAS HRAS ENG
44 angiosarcoma 29.6 VEGFA TIE1 TEK KRAS ANGPT2 ANGPT1
45 pulmonary hypertension 29.5 VEGFA TGFBR1 TEK IL6 ENG BMPR2
46 hemangioma 29.4 VEGFA TEK PTEN PDCD10 NOTCH4 MMP9
47 arthritis 29.3 VEGFA TEK MMP9 IL6 ANGPT1
48 exudative vitreoretinopathy 1 29.3 VEGFA TEK IL6 ANGPT2 ANGPT1
49 glioblastoma multiforme 29.3 VEGFA PTEN MMP9 KRAS IL6 HRAS
50 lung cancer susceptibility 3 29.2 VEGFA TGFBR1 PTEN MMP9 KRAS IL6

Graphical network of the top 20 diseases related to Arteriovenous Malformation:



Diseases related to Arteriovenous Malformation

Symptoms & Phenotypes for Arteriovenous Malformation

UMLS symptoms related to Arteriovenous Malformation:


seizures, tremor, angina pectoris, edema, chest pain, back pain, pain, headache, syncope, chronic pain, sciatica, vertigo/dizziness, sleeplessness

GenomeRNAi Phenotypes related to Arteriovenous Malformation according to GeneCards Suite gene sharing:

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.6 HRAS KRAS
2 Decreased viability GR00106-A-0 10.6 KRAS
3 Decreased viability GR00173-A 10.6 BMPR2
4 Decreased viability GR00221-A-1 10.6 ACVRL1 BMPR2 HRAS EPHB4 TGFBR1 TIE1
5 Decreased viability GR00221-A-2 10.6 ACVRL1 HRAS EPHB4 KRAS
6 Decreased viability GR00221-A-3 10.6 ACVRL1 BMPR2 HRAS RASA1 TEK
7 Decreased viability GR00221-A-4 10.6 ACVRL1 BMPR2 RASA1 EPHB4 TGFBR1 TIE1
8 Decreased viability GR00301-A 10.6 BMPR2 EPHB4 KRAS
9 Decreased viability GR00342-S-1 10.6 TIE1
10 Decreased viability GR00342-S-2 10.6 TIE1
11 Decreased viability GR00342-S-3 10.6 TIE1
12 Decreased viability GR00381-A-1 10.6 RASA1 KRAS
13 Decreased viability GR00402-S-2 10.6 ACVRL1 BMPR2 HRAS RASA1 TEK EPHB4
14 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 9.55 EPHB4 HRAS PTEN TIE1 VEGFA
15 Increased cell death HMECs cells GR00103-A-0 9.1 ENG EPHB4 PDCD10 PTEN RASA1 TIE1

MGI Mouse Phenotypes related to Arteriovenous Malformation:

45 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.58 ACVRL1 ANGPT1 ANGPT2 BMPR2 EFNB2 ENG
2 growth/size/body region MP:0005378 10.51 ACVRL1 ANGPT1 BMPR2 EFNB2 ENG EPHB4
3 homeostasis/metabolism MP:0005376 10.46 ACVRL1 ANGPT1 ANGPT2 BMPR2 EFNB2 ENG
4 mortality/aging MP:0010768 10.46 ACVRL1 ANGPT1 ANGPT2 BMPR2 EFNB2 ENG
5 embryo MP:0005380 10.45 ACVRL1 ANGPT1 BMPR2 EFNB2 ENG EPHB4
6 digestive/alimentary MP:0005381 10.4 ACVRL1 ANGPT2 EFNB2 ENG HRAS IL6
7 cellular MP:0005384 10.35 ANGPT2 BMPR2 EFNB2 IL6 ITGB8 KRAS
8 immune system MP:0005387 10.34 ANGPT1 ANGPT2 BMPR2 EFNB2 EPHB4 IL6
9 muscle MP:0005369 10.34 ACVRL1 ANGPT1 BMPR2 EFNB2 ENG EPHB4
10 nervous system MP:0003631 10.32 ACVRL1 ANGPT1 BMPR2 EFNB2 ENG HRAS
11 hematopoietic system MP:0005397 10.3 ACVRL1 BMPR2 EFNB2 ENG IL6 KRAS
12 integument MP:0010771 10.29 ANGPT2 BMPR2 EFNB2 ENG HRAS IL6
13 craniofacial MP:0005382 10.17 ACVRL1 EFNB2 ENG HRAS ITGB8 KRAS
14 normal MP:0002873 10.17 ACVRL1 BMPR2 EFNB2 ENG HRAS ITGB8
15 renal/urinary system MP:0005367 10.07 ACVRL1 ANGPT1 BMPR2 EFNB2 EPHB4 HRAS
16 neoplasm MP:0002006 10.01 HRAS IL6 KRAS MMP9 PDCD10 PTEN
17 respiratory system MP:0005388 9.97 ACVRL1 ANGPT2 BMPR2 EFNB2 ENG HRAS
18 skeleton MP:0005390 9.65 BMPR2 EFNB2 HRAS IL6 KRAS MMP9
19 vision/eye MP:0005391 9.44 ANGPT1 ANGPT2 BMPR2 EFNB2 IL6 KRAS

Drugs & Therapeutics for Arteriovenous Malformation

Drugs for Arteriovenous Malformation (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 117)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
2
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
3
Ethanol Approved Phase 4 64-17-5 702
4 Ethiodized oil Approved, Investigational Phase 4 8008-53-5
5
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
6
Tenecteplase Approved Phase 4 191588-94-0
7
Clopidogrel Approved Phase 4 120202-66-6, 113665-84-2 60606
8 Adrenergic alpha-2 Receptor Agonists Phase 4
9 Hypnotics and Sedatives Phase 4
10 Adjuvants, Anesthesia Phase 4
11 Anesthetics Phase 4
12 Anesthetics, General Phase 4
13 Anesthetics, Intravenous Phase 4
14 Neurotransmitter Agents Phase 4
15 calcium heparin Phase 4
16 Purinergic P2Y Receptor Antagonists Phase 4
17
Mupirocin Approved, Investigational, Vet_approved Phase 3 12650-69-0 446596
18
Petrolatum Approved, Investigational Phase 3 8009-03-8
19
tannic acid Approved Phase 3 1401-55-4
20
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
21
Acetaminophen Approved Phase 2, Phase 3 103-90-2 1983
22
Acetazolamide Approved, Vet_approved Phase 2, Phase 3 59-66-5 1986
23
Ibuprofen Approved Phase 2, Phase 3 15687-27-1 3672
24
Guaifenesin Approved, Investigational, Vet_approved Phase 2, Phase 3 93-14-1 3516
25
Naproxen Approved, Vet_approved Phase 2, Phase 3 22204-53-1 1302 156391
26
Codeine Approved, Illicit Phase 2, Phase 3 76-57-3 5284371
27
Bevacizumab Approved, Investigational Phase 3 216974-75-3
28 Central Nervous System Depressants Phase 2, Phase 3
29 Narcotics Phase 2, Phase 3
30 Analgesics, Opioid Phase 2, Phase 3
31 Respiratory System Agents Phase 2, Phase 3
32 Natriuretic Agents Phase 2, Phase 3
33 Antitussive Agents Phase 2, Phase 3
34 Chlorpheniramine, phenylpropanolamine drug combination Phase 2, Phase 3
35 Anticonvulsants Phase 2, Phase 3
36 Carbonic Anhydrase Inhibitors Phase 2, Phase 3
37 diuretics Phase 2, Phase 3
38 Angiogenesis Inhibitors Phase 3
39 Antineoplastic Agents, Immunological Phase 3
40
Mannitol Approved, Investigational Phase 2 69-65-8 453 6251
41
Doxycycline Approved, Investigational, Vet_approved Phase 2 564-25-0 54671203
42
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
43
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
44
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
45 Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
46
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
47
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
48
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
49
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
50
Somatostatin Approved, Investigational Phase 2 51110-01-1, 38916-34-6 53481605

Interventional clinical trials:

(show top 50) (show all 128)
# Name Status NCT ID Phase Drugs
1 Effect of Dexmedetomidine Combined With Sufentanil for Postoperative Intravenous Analgesia in Neurosurgery: A Randomized Controlled Study Unknown status NCT02552459 Phase 4 Sufentanil;dexmedetomidine 1;dexmedetomidine 2;dexmedetomidine 3
2 Yellow 560 Microscope for Intraoperative Visualization of Fluorescein Stained Intracranial Lesions Unknown status NCT02478346 Phase 4 Fluorescein Sodium
3 A Prospective, Randomized, Single-Center Study Comparing Contour SE™ Microspheres to Embosphere® Microspheres for Treating Symptomatic Uterine Fibroids With Uterine Fibroid Embolization (UFE) Completed NCT00628901 Phase 4
4 Safety and Efficacy of Lipiodol® Ultra Fluid in Association With Surgical Glues During Vascular Embolization. A Phase IV Study. Recruiting NCT02625389 Phase 4 Lipiodol® Ultra Fluid with surgical glues
5 TRIANA: A Randomized Trial to Compare the Efficay and Safety of Thrombolysis With Primary Angioplasty as Initial Reperfusion Therapy in Older Patients (>= 75 Years Old) With Acute Myocardial Infarction Terminated NCT00257309 Phase 4 Tenecteplase + UFH (+ clopidogrel, since 01/97)
6 CLP 7463: Visceral Artery Aneurysm Embolization by the Penumbra Ruby™ Coil System Withdrawn NCT02079818 Phase 4
7 Blood Oxygen Level Dependent fMRI Navigation for Function Protection in Intracranial Arteriovenous Malformation Surgery: a Multicenter Prospective Randomized Controlled Single Blind Clinical Trial Unknown status NCT01758211 Phase 3
8 Treatment of Nasal Staphylococcus Aureus Colonization in Patients With Hereditary Hemorrhagic Telangiectasia With Recurrent Epistaxis. Unknown status NCT02963129 Phase 3 Mupirocin
9 A Multicenter, Open-label Study for E7040 in Japanese Subjects With Hypervascular Tumor and Subjects With Arteriovenous Malformation Completed NCT01677624 Phase 3
10 A Randomized Trial of Unruptured Brain Arteriovenous Malformations Completed NCT00389181 Phase 3
11 Identifying Determinants and Optimizing Rehabilitation of Physical Activity for Children After the Fontan Procedure Completed NCT00363363 Phase 3
12 A Multicenter, Double-blind, Randomized, Placebo-controlled Study of Weight-Reduction and/or Low Sodium Diet Plus Acetazolamide vs Diet Plus Placebo in Subjects With Idiopathic Intracranial Hypertension With Mild Visual Loss Completed NCT01003639 Phase 2, Phase 3 Acetazolamide;Placebo
13 Feasibility Study of Phase-contrast MRI for Flow in the External Carotid Branches Arteries in Normal and Pathological Cases Recruiting NCT02829190 Phase 3
14 BABH Study: Efficacy and Safety of Bevacizumab on Severe Bleedings Associated With Hemorrhagic Hereditary Telangiectasia (HHT). A National, Multicenter Phase III Study Active, not recruiting NCT03227263 Phase 3 Bevacizumab;sodium chloride 0.9%
15 Treatment of Hereditary Hemorrhagic Telangiectasia of the Nasal Mucosa by Intranasal Bevacizumab : Search for Effective Dose Unknown status NCT02157987 Phase 1, Phase 2 bevacuzimab spray
16 Low-dose Intra-arterial Bevacizumab for Edema and Radiation Necrosis Therapeutic Intervention (LIBERTI) Unknown status NCT02819479 Phase 2 25% Mannitol;Low-dose Intra-arterial Bevacizumab
17 Thalidomide Reduces Arteriovenous Malformation Related Gastrointestinal Bleeding Completed NCT00389935 Phase 2 Thalidomide
18 U.S. Multicenter, Randomized Controlled Study Comparing the Performance fo Onyx(EVOH) and TRUFILL® (n-BCA)in Presurgical Embolization of Brain Arteriovenous Malformations (BAVMs) Completed NCT00857662 Phase 2
19 Efficacy of Thalidomide in the Treatment of Severe Recurrent Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01485224 Phase 2 Thalidomide
20 Prospective Evaluation of the Efficacy of Sirolimus (Rapamune®) in the Treatment of Severe Arteriovenous Malformations Recruiting NCT02042326 Phase 2 Sirolimus
21 Proton Radiotherapy for Primary Central Nervous System Tumours in Adults - a Prospective Swedish Multicentre Study Recruiting NCT02797366 Phase 2
22 A Safety and Efficacy Trial of Circumferential Anal Canal Radiofrequency Ablation for High-Grade Anal Intraepithelial Neoplasia Using the BARRX™ Anorectal Wand Recruiting NCT03302858 Phase 2
23 Doxycycline Crossover Trial for Hereditary Hemorrhagic Telangiectasia Recruiting NCT03397004 Phase 2 Doxycycline Hyclate;Placebo
24 Vitamin D Supplementation and Reduction of Severity and Frequency of Epistaxis in Hereditary Haemorrhagic Telangiectasia Recruiting NCT03981562 Phase 2 Vit D;Placebo Oral Tablet
25 An Uncontrolled, Pilot-study Assessing the Efficacy of Octreotide Long-acting Release to Decrease Transfusion Requirements and Endoscopy Frequency in Patients With Rendu-Osler-Weber and Gastrointestinal Bleeding Active, not recruiting NCT02874326 Phase 2 Octreotide LAR
26 A Phase II Study Using LC Bead LUMI Radio-Opaque Embolic Beads to Detect and Characterize the Vascularity of Hepatic Tumors During Treatment With Transarterial Embolization (TAE) Alone or Combined With Thermal Ablation Enrolling by invitation NCT02649868 Phase 2
27 Radiation Dosimetry, Plasma Pharmacokinetics, Biodistribution, Safety and Diagnostic Performance of 68Ga-NEB in Healthy Volunteers and Patients With Hepatic Space-occupying Lesions and Suspicious Lymph Nodes Metastasis Unknown status NCT02496013 Phase 1 68Ga-NEB
28 Influence of Matrix Metalloproteinase on Brain Arteriovenous Malformation Hemorrhage Completed NCT00783523 Phase 1 Doxycycline or Placebo
29 Tetracycline-Derivatives for Treatment of Cerebral Arteriovenous Malformations and Aneurysms Completed NCT00243893 Phase 1 minocycline;doxycycline
30 Phase I Dose Escalation Study to Evaluate the Safety and Preliminary Efficacy of Marimastat in Patients With Disabling Malformations and No Other Treatment Options Completed NCT00261391 Phase 1 Marimastat
31 Bevacizumab Therapy for Brain Arteriovenous Malformation Recruiting NCT02314377 Phase 1 Bevacizumab
32 Phase 1 Study to Assess the Safety of 500mg of Aspirin Added to IV TPA at Standard Doses to Prevent Re-occlusion of Cerebral Vessels After Successful Reperfusion. Withdrawn NCT00417898 Phase 1 Aspirin
33 A Nationwide Treatment Survey of Intracranial Arteriovenous Malformation: a Multicenter Retrospective and Prospective Register Study in China Unknown status NCT01803685
34 Effects of Dexmedetomidine on Post-operative Blood Pressure in Patients Undergoing Brain Arteriovenous Malformation Embolization Unknown status NCT03076099 Dexmedetomidine
35 Studies of Plasma Proteins Derived From Pulmonary Arteriovenous Malformation Patients Unknown status NCT00230672
36 Identification of Genetic and Cellular Markers Associated With Vascular Endothelial Modifications in Cutaneous Arteriovenous Malformations Unknown status NCT01774916
37 Hammersmith Hospital Patients With Pulmonary Arteriovenous Malformations (PAVMs) and Hereditary Haemorrhagic Telangiectasia Unknown status NCT00230685
38 Surgical Management of Cerebral Arteriovenous Malformations Within Hybrid Operation Room Unknown status NCT03209804
39 NIRS Monitoring During Intracranial Interventions Unknown status NCT03367975
40 Safety of Rapid Ventricular Pacing During Cerebral Aneurysm Surgery by Multimodal Neuromonitoring Unknown status NCT03185091
41 The Efficacy of Multimodal Magnetic Resonance Imaging Techniques in Assessing the Surgical Risk for Eloquent Arteriovenous Malformations Unknown status NCT02868008
42 Hypoxemia, Dyspnea, and Exercise Tolerance in Patients With Pulmonary Arteriovenous Malformations , With and Without Airflow Obstruction Unknown status NCT02458703
43 Hypoxemia, Dyspnea, and Exercise Tolerance in Patients With Pulmonary Arteriovenous Malformations Unknown status NCT02436213
44 Advanced Analysis of the Carotid Phonoangiography and Diseases Unknown status NCT02049463
45 MRI for Early Identification of Underlying Pathology in Patients With Acute Intracerebral Hemorrhage Unknown status NCT01689402
46 Evaluation of Susceptibility-weighted Magnetic Resonance Imaging and 4d-time-resolved Magnetic Resonance Angiography in Brain Arteriovenous Malformations Unknown status NCT03031873
47 A Questionnaire Study on Diet and Hereditary Haemorrhagic Telangiectasia Unknown status NCT01692015
48 PrOspective, MultiCenter Study for the Evaluation of PerformanCe of the ArtVentive Medical Group Peripheral EndoLuminal OcclUsion SystemTM for the Peripheral Embolization Treatment to Rapidly OccluDe Venous or Arterial BleEding - OCCLUDE II Unknown status NCT02033954
49 French National Prospective Cohort of Children With Port Wine Stain on a Limb = "Cohorte Nationale d'Enfants Avec Angiome Plan de Membre inférieur" Unknown status NCT01364857
50 Phase IV Trial Evaluating the Use of Stereotactic Body Radiotherapy for the Treatment of Spine Metastases and Primary Spine Tumors Unknown status NCT01347307

Search NIH Clinical Center for Arteriovenous Malformation

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Arteriovenous Malformation cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Arteriovenous Malformation:
VASCUGEL, aortic endothelial cells for vascular injury and disease
Embryonic/Adult Cultured Cells Related to Arteriovenous Malformation:
Aortic endothelial cells cultured in matrix PMIDs: 7667257
Aortic endothelial cells cultured in matrix (VASCUGEL) PMIDs: 7667257

Genetic Tests for Arteriovenous Malformation

Genetic tests related to Arteriovenous Malformation:

# Genetic test Affiliating Genes
1 Arteriovenous Malformation 29

Anatomical Context for Arteriovenous Malformation

MalaCards organs/tissues related to Arteriovenous Malformation:

40
Brain, Spinal Cord, Heart, Endothelial, Lung, Liver, Testes

Publications for Arteriovenous Malformation

Articles related to Arteriovenous Malformation:

(show top 50) (show all 13591)
# Title Authors PMID Year
1
Pulmonary arteriovenous malformations: what the interventional radiologist needs to know. 61 42
31209790 2019
2
Persistence of Pulmonary Arteriovenous Malformation after Embolization: Another Reason to Quit Smoking. 61 42
31364958 2019
3
Feeding arteries and arteriovenous shunt for discrimination of soft tissue tumors. 42
31277190 2019
4
Three-Dimensional Angles of Confluence of Cortical Bridging Veins and the Superior Sagittal Sinus on MR Venography: Does Drainage of Adjacent Brain Arteriovenous Malformations Alter this Spatial Configuration? 61
31749197 2020
5
Granuloma formation following cyanoacrylate glue injection in peripheral veins and arteriovenous malformation. 61
31204574 2020
6
Transvenous embolization for a huge pelvic arteriovenous malformation associated with prominent outflow veins. 61
31956389 2020
7
Atypical Intracerebral Developmental Venous Anomalies in Sturge-Weber Syndrome: A Case Series and Review of Literature. 61
31924481 2020
8
CIRSE Standards of Practice on Diagnosis and Treatment of Pulmonary Arteriovenous Malformations. 61
31875234 2020
9
Endovascular Management of Acquired Hepatic Arterial-Portal Venous Malformations. 61
31768623 2020
10
A Clinical Feasibility Study to Image Angiogenesis in Patients with Arteriovenous Malformations Using 68Ga-RGD PET/CT. 61
31519800 2020
11
Age-dependent changes of collagen alpha-2(IV) expression in the extracellular matrix of brain arteriovenous malformations. 61
31837516 2020
12
Removal of distal fragments of liquid embolic agents during arteriovenous malformation embolization using the TIGERTRIEVER 13: a technical report. 61
32024783 2020
13
Dynamic Brow Restoration Using a Soft Tissue Expander in Adult Patients With Arteriovenous Malformation. 61
32040004 2020
14
Interhemispheric Transfalcine Approach for Resection of Contralateral Arteriovenous Malformation: 2-Dimensional Operative Video. 61
32022233 2020
15
Interhemispheric Craniotomy for Resection of Thalamic Arteriovenous Malformation: 2-Dimensional Operative Video. 61
32022241 2020
16
Staged embolization and excision of an arteriovenous malformation involving the eyelid and orbit. 61
30732507 2020
17
Pediatric cerebral proliferative angiopathy presenting infratentorial hemorrhage. 61
31338577 2020
18
Radial Arterial Access for Thoracic Intraoperative Spinal Angiography in the Prone Position. 61
32032790 2020
19
Impact of AVM location on language cortex right-hemisphere reorganization: A voxel-based lesion-symptom mapping study. 61
31838451 2020
20
Correcting Smad1/5/8, mTOR, and VEGFR2 treats pathology in hereditary hemorrhagic telangiectasia models. 61
31689244 2020
21
You "Cantu": Multidisciplinary Collaboration Resulting in Successful Orthognathic Surgery. 61
31401848 2020
22
Endovascular Management of Neurofibromatosis Type I-Associated Vasculopathy: A Case Series and Brief Review of the Literature. 61
31672102 2020
23
Radiation Therapy for Benign Disease: Arteriovenous Malformations, Desmoid Tumor, Dupuytren Contracture, Graves Ophthalmopathy, Gynecomastia, Heterotopic Ossification, Histiocytosis. 61
31739945 2020
24
MR characteristics of unruptured intracranial arteriovenous malformations associated with seizure as initial clinical presentation. 61
31320549 2020
25
Reperfusion of Pulmonary Arteriovenous Malformations Following Embolotherapy: A Randomized Controlled Trial of Detachable Versus Pushable Coils. 61
32020296 2020
26
Stereotactic radiosurgery for pediatric brain arteriovenous malformations: long-term outcomes. 61
32032957 2020
27
Interventions for Treating Brain Arteriovenous Malformations in Adults. 61
31896346 2020
28
More II It than Meets the Eye: Outcomes After Single-Fraction Stereotactic Radiosurgery in a Case Series of Low-Grade Arteriovenous Malformations. 61
31250901 2020
29
Single-Center Study: Evaluating the Diagnostic Performance and Safety of Contrast-Enhanced Ultrasound (CEUS) in Pregnant Women to Assess Hepatic Lesions. 61
31362328 2020
30
Scalp Cirsoid Aneurysms: Case Illustration and Systematic Review of Literature. 61
31384940 2020
31
Fast-track incorporation of the transradial approach in endovascular neurointervention. 61
31300534 2020
32
Peripheral Vascular Anomalies - Essentials in Periinterventional Imaging. 61
31622988 2020
33
Arteriovenous malformation of the gallbladder. 61
31444032 2020
34
Grade 4 Temporal Arteriovenous Malformation: 2-Dimensional Operative Video. 61
31758192 2020
35
Microsurgical Resection of Brainstem Arteriovenous Malformation: 2-Dimensional Operative Video. 61
31758193 2020
36
Pathogenesis of non-hereditary brain arteriovenous malformation and therapeutic implications. 61
32024399 2020
37
Overview of the current concepts in the management of arteriovenous malformations of the brain. 61
32015188 2020
38
Arterial-spin labeling MRI identifies residual cerebral arteriovenous malformation following stereotactic radiosurgery treatment. 61
30658138 2020
39
[Coarctation of aorta in a neonate? It is not always what it seems: an illustrative case]. 61
31984714 2020
40
Microsurgery for Unruptured Cerebral Arteriovenous Malformations in the National Inpatient Sample Is More Common Post-ARUBA. 61
32032786 2020
41
What neurointerventionists think about the treatment of unruptured brain arteriovenous malformations: the complexity of moving towards evidence-based treatment. 61
31974635 2020
42
Long-term functional outcome after intervention for pediatric intracranial arteriovenous malformations: A systematic review and meta-analysis. 61
32018117 2020
43
Letter to the Editor Regarding "One and Done: Multimodal Treatment of Pediatric Cerebral Arteriovenous Malformations in a Single Anesthesia Event". 61
31881565 2020
44
Dosimetric comparison of iPlanⓇ Pencil Beam (PB) and Monte Carlo (MC) algorithms in stereotactic radiosurgery/radiotherapy (SRS/SRT) plans of intracranial arteriovenous malformations. 61
32001069 2020
45
Reply to Letter to the Editor Regarding "One and Done: Multimodal Treatment of Pediatric Arteriovenous Malformations in a Single Anesthesia Event". 61
31881566 2020
46
Infant Fistula-type Arteriovenous Malformation with Cerebellar Hemorrhage Developed into Nidus-type in Adolescence: A Case Report. 61
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47
Commentary: A Virtual-Reality, 360-Degree Fly-Through of an Arteriovenous Malformation Resection: 2-Dimensional Operative Video. 61
31342071 2020
48
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31646377 2020
49
Resection of a posterior fossa arteriovenous malformation complicated by leaked Onyx: a case report and review of literature. 61
31997070 2020
50
[A Case of Ruptured Arteriovenous Malformation Successfully Treated with Target Embolization for Pseudoaneurysm Detected Using Chronological Three-dimensional Digital Subtraction Angiography Fusion Images]. 61
31983687 2020

Variations for Arteriovenous Malformation

ClinVar genetic disease variations for Arteriovenous Malformation:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HRAS NM_005343.4(HRAS):c.172_177delinsGTCCTGGATGTT (p.Thr58_Ala59delinsValLeuAspVal)indel Pathogenic 690298 11:533879-533884 11:533879-533884
2 GLI2 NM_005270.4(GLI2):c.2644A>T (p.Thr882Ser)SNV Uncertain significance 523482 rs1332140763 2:121746134-121746134 2:120988558-120988558
3 ADGRV1 NM_032119.4(ADGRV1):c.5188A>T (p.Ile1730Phe)SNV Uncertain significance 523543 rs1554079046 5:89971137-89971137 5:90675320-90675320
4 CACNA1H NM_021098.3(CACNA1H):c.6884C>T (p.Ser2295Phe)SNV Uncertain significance 523531 rs772718469 16:1270816-1270816 16:1220816-1220816

Expression for Arteriovenous Malformation

Search GEO for disease gene expression data for Arteriovenous Malformation.

Pathways for Arteriovenous Malformation

Pathways related to Arteriovenous Malformation according to GeneCards Suite gene sharing:

(show top 50) (show all 69)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.73 VEGFA TIE1 TGFBR1 TEK MMP9 KRAS
2
Show member pathways
13.7 TIE1 TGFBR1 TEK KRAS IL6 HRAS
3
Show member pathways
13.53 VEGFA TEK RASA1 MMP9 KRAS HRAS
4
Show member pathways
13.51 VEGFA TIE1 TGFBR1 TEK KRAS ITGB8
5
Show member pathways
13.4 VEGFA TEK RASA1 MMP9 KRAS IL6
6
Show member pathways
13.36 TIE1 TGFBR1 TEK PTEN KRAS IL6
7
Show member pathways
13.32 VEGFA TIE1 TEK KRAS IL6 HRAS
8
Show member pathways
13.12 TIE1 TGFBR1 TEK PTEN KRAS ITGB8
9
Show member pathways
13.1 TGFBR1 PTEN KRAS ITGB8 IL6 HRAS
10
Show member pathways
13.1 TIE1 TGFBR1 TEK PTEN NOTCH4 KRAS
11
Show member pathways
13 VEGFA TIE1 TGFBR1 TEK RASA1 PTEN
12
Show member pathways
12.99 VEGFA PTEN MMP9 KRAS IL6 HRAS
13
Show member pathways
12.91 VEGFA TGFBR1 PTEN MMP9 KRAS HRAS
14
Show member pathways
12.91 TGFBR1 RASA1 PTEN KRAS ITGB8 IL6
15
Show member pathways
12.86 VEGFA TEK PTEN NOTCH4 KRAS ITGB8
16
Show member pathways
12.8 TGFBR1 PTEN NOTCH4 KRAS HRAS
17 12.8 VEGFA TGFBR1 PTEN NOTCH4 MMP9 KRAS
18
Show member pathways
12.76 VEGFA TEK RASA1 KRAS HRAS ANGPT2
19
Show member pathways
12.71 VEGFA TGFBR1 MMP9 KRAS HRAS
20
Show member pathways
12.71 PTEN NOTCH4 MMP9 KRAS HRAS
21
Show member pathways
12.71 KRAS ITGB8 HRAS BMPR2 ACVRL1
22 12.67 VEGFA TGFBR1 TEK RASA1 KRAS HRAS
23
Show member pathways
12.66 VEGFA PTEN KRAS IL6 HRAS
24
Show member pathways
12.65 VEGFA RASA1 MMP9 HRAS EPHB4 EFNB2
25
Show member pathways
12.63 VEGFA RASA1 PTEN KRAS HRAS
26
Show member pathways
12.5 TIE1 TEK RASA1 KRAS IL6 HRAS
27 12.49 VEGFA PTEN NOTCH4 MMP9 KRAS HRAS
28
Show member pathways
12.44 RASA1 PTEN KRAS HRAS
29
Show member pathways
12.43 VEGFA RASA1 KRAS HRAS
30
Show member pathways
12.42 RASA1 HRAS EPHB4 EFNB2
31 12.38 TGFBR1 PTEN KRAS IL6 HRAS
32 12.34 VEGFA MMP9 KRAS HRAS
33
Show member pathways
12.33 TIE1 TEK RASA1 KRAS ITGB8 IL6
34
Show member pathways
12.29 TEK KRAS HRAS ANGPT2 ANGPT1
35 12.28 TGFBR1 NOTCH4 ENG BMPR2
36
Show member pathways
12.27 VEGFA PTEN KRAS HRAS
37
Show member pathways
12.25 TIE1 TEK PTEN KRAS ITGB8 HRAS
38 12.25 RASA1 KRAS HRAS EPHB4 EFNB2 BMPR2
39 12.24 VEGFA TGFBR1 MMP9 KRAS IL6
40 12.22 RASA1 PTEN KRAS HRAS
41 12.21 TGFBR1 PTEN KRAS IL6 HRAS
42
Show member pathways
12.18 RASA1 PTEN KRAS HRAS
43 12.18 VEGFA TGFBR1 PTEN KRAS BMPR2
44
Show member pathways
12.16 TGFBR1 PTEN IL6 HRAS
45 12.16 TIE1 TEK EPHB4 EFNB2 ANGPT2
46
Show member pathways
12.11 TGFBR1 PTEN KRAS IL6 HRAS
47 11.98 VEGFA TEK IL6 ANGPT2 ANGPT1
48 11.94 TGFBR1 KRAS ENG ACVRL1
49 11.92 VEGFA TEK IL6 ANGPT1
50 11.92 VEGFA TGFBR1 KRAS IL6 HRAS

GO Terms for Arteriovenous Malformation

Cellular components related to Arteriovenous Malformation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.02 VEGFA TEK PTEN NOTCH4 MMP9 IL6
2 plasma membrane GO:0005886 9.89 TIE1 TGFBR1 TEK RASA1 PTEN PDCD10
3 cell surface GO:0009986 9.76 VEGFA TGFBR1 TEK NOTCH4 ITGB8 ENG
4 focal adhesion GO:0005925 9.65 TEK KRAS ITGB8 ENG EFNB2
5 membrane raft GO:0045121 9.62 TGFBR1 TEK KRAS ANGPT1
6 receptor complex GO:0043235 9.17 TIE1 TGFBR1 TEK EPHB4 ENG BMPR2

Biological processes related to Arteriovenous Malformation according to GeneCards Suite gene sharing:

(show top 50) (show all 55)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.32 VEGFA TIE1 TGFBR1 TEK RASA1 KRAS
2 phosphorylation GO:0016310 10.17 TIE1 TGFBR1 TEK EPHB4 BMPR2 ACVRL1
3 protein phosphorylation GO:0006468 10.15 TIE1 TGFBR1 TEK EPHB4 BMPR2 ACVRL1
4 MAPK cascade GO:0000165 10.04 TEK RASA1 KRAS HRAS ANGPT1
5 heart development GO:0007507 10.03 TGFBR1 TEK PTEN ENG ACVRL1
6 positive regulation of cell migration GO:0030335 10.03 VEGFA TGFBR1 PDCD10 MMP9 HRAS
7 positive regulation of cell proliferation GO:0008284 10.03 VEGFA TGFBR1 PTEN PDCD10 KRAS IL6
8 positive regulation of ERK1 and ERK2 cascade GO:0070374 10.01 TEK PTEN HRAS ANGPT1
9 in utero embryonic development GO:0001701 10.01 VEGFA TIE1 TGFBR1 ANGPT1 ACVRL1
10 negative regulation of gene expression GO:0010629 10.01 VEGFA PDCD10 ITGB8 HRAS ENG ACVRL1
11 positive regulation of protein kinase B signaling GO:0051897 9.98 TGFBR1 TEK ENG ANGPT1
12 response to hypoxia GO:0001666 9.98 VEGFA TEK ANGPT2 ACVRL1
13 negative regulation of neuron apoptotic process GO:0043524 9.97 RASA1 KRAS HRAS ANGPT1
14 negative regulation of cell migration GO:0030336 9.96 TIE1 PTEN ENG ACVRL1
15 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.95 TIE1 TEK EPHB4 ANGPT1
16 positive regulation of protein phosphorylation GO:0001934 9.95 VEGFA TEK MMP9 KRAS HRAS ENG
17 negative regulation of apoptotic process GO:0043066 9.91 VEGFA TGFBR1 TEK RASA1 PTEN PDCD10
18 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.9 VEGFA PDCD10 IL6 ANGPT1
19 ephrin receptor signaling pathway GO:0048013 9.89 RASA1 MMP9 HRAS EPHB4 EFNB2
20 cellular response to growth factor stimulus GO:0071363 9.88 TGFBR1 BMPR2 ANGPT2 ACVRL1
21 positive regulation of MAP kinase activity GO:0043406 9.87 VEGFA PDCD10 KRAS HRAS
22 positive regulation of endothelial cell migration GO:0010595 9.86 VEGFA TEK BMPR2 ANGPT1
23 negative regulation of cell adhesion GO:0007162 9.85 RASA1 ANGPT1 ACVRL1
24 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.85 TGFBR1 ENG BMPR2 ACVRL1
25 positive regulation of BMP signaling pathway GO:0030513 9.83 ENG BMPR2 ACVRL1
26 sprouting angiogenesis GO:0002040 9.83 VEGFA TEK ENG ANGPT1
27 branching involved in blood vessel morphogenesis GO:0001569 9.82 VEGFA NOTCH4 ENG
28 blood vessel morphogenesis GO:0048514 9.81 RASA1 EFNB2 ANGPT2 ACVRL1
29 positive regulation of gene expression GO:0010628 9.81 VEGFA TGFBR1 PTEN PDCD10 KRAS ITGB8
30 artery morphogenesis GO:0048844 9.8 VEGFA TGFBR1 ENG
31 positive regulation of endothelial cell proliferation GO:0001938 9.8 VEGFA TGFBR1 TEK BMPR2 ACVRL1
32 cell migration involved in sprouting angiogenesis GO:0002042 9.78 VEGFA EPHB4 EFNB2
33 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.77 TGFBR1 BMPR2 ACVRL1
34 activin receptor signaling pathway GO:0032924 9.76 TGFBR1 BMPR2 ACVRL1
35 lymphangiogenesis GO:0001946 9.72 BMPR2 ACVRL1
36 regulation of neuroinflammatory response GO:0150077 9.72 MMP9 IL6
37 vasculogenesis GO:0001570 9.72 VEGFA TIE1 RASA1 ITGB8 ENG
38 positive regulation of cellular component movement GO:0051272 9.71 VEGFA TGFBR1
39 coronary artery morphogenesis GO:0060982 9.71 VEGFA TGFBR1
40 negative regulation of endothelial cell differentiation GO:0045602 9.71 NOTCH4 ACVRL1
41 retina vasculature development in camera-type eye GO:0061298 9.71 BMPR2 ACVRL1
42 artery development GO:0060840 9.7 BMPR2 ACVRL1
43 dorsal aorta morphogenesis GO:0035912 9.7 ENG ACVRL1
44 venous blood vessel morphogenesis GO:0048845 9.7 ENG EFNB2
45 positive regulation of axon extension involved in axon guidance GO:0048842 9.7 VEGFA BMPR2
46 response to isolation stress GO:0035900 9.69 KRAS HRAS
47 lymphatic endothelial cell differentiation GO:0060836 9.69 BMPR2 ACVRL1
48 regulation of endothelial cell proliferation GO:0001936 9.68 ANGPT1 ACVRL1
49 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.67 TGFBR1 ENG
50 venous blood vessel development GO:0060841 9.66 BMPR2 ACVRL1

Molecular functions related to Arteriovenous Malformation according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.43 VEGFA TIE1 TGFBR1 TEK RASA1 PTEN
2 kinase activity GO:0016301 10 TIE1 TGFBR1 TEK EPHB4 BMPR2 ACVRL1
3 signaling receptor activity GO:0038023 9.85 TEK NOTCH4 ITGB8 BMPR2
4 protein kinase activity GO:0004672 9.85 TIE1 TGFBR1 TEK EPHB4 BMPR2 ACVRL1
5 signaling receptor binding GO:0005102 9.73 TGFBR1 RASA1 ITGB8 EFNB2 ANGPT2 ANGPT1
6 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.69 TIE1 TEK EPHB4
7 growth factor binding GO:0019838 9.58 TGFBR1 TEK BMPR2
8 BMP binding GO:0036122 9.56 ENG BMPR2
9 type II transforming growth factor beta receptor binding GO:0005114 9.54 TGFBR1 ENG
10 transforming growth factor beta binding GO:0050431 9.5 TGFBR1 ENG ACVRL1
11 BMP receptor activity GO:0098821 9.49 BMPR2 ACVRL1
12 activin receptor activity, type I GO:0016361 9.46 TGFBR1 ACVRL1
13 transforming growth factor beta receptor activity, type I GO:0005025 9.43 TGFBR1 ACVRL1
14 activin binding GO:0048185 9.33 TGFBR1 ENG ACVRL1
15 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.13 TGFBR1 BMPR2 ACVRL1
16 transforming growth factor beta-activated receptor activity GO:0005024 8.8 TGFBR1 BMPR2 ACVRL1

Sources for Arteriovenous Malformation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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